Please note this is a beta version of the ClinGen Evidence Repository. This resource is intended to provide access to variant level evidence used and applied by ClinGen Variant Curation Expert Panels in the classification of variants. In this beta version, the evidence is limited to curation notes and referenced literature (PMIDs).
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PAH-specific ACMG/AMP criteria applied: PM2: absent from ExAC, gnomAD, 1000G, ESP. PAGE MAF=0.00066; PP3: Deleterious effect predicted in SIFT, Polyphen-2, MutationTaster. REVEL=0.967; PP4_Moderate: Detected in a patient with classic PKU. Cofactor deficiency excluded. (PMID:10679941); PM3: Detected in trans with R408W (P) (PMID:10679941). In summary this variant meets criteria to be classified as likely pathogenic for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PM2, PP3, PP4_Moderate, PM3).
Met criteria codes
Detected in a patient with classic PKU. Cofactor deficiency excluded.
302 PKU or HPA patients in 290 families were analyzed. Most of the patients were identified by neonatal screening. Cofactor deficiency was excluded by the BH4 test. Detected in a patient (SD) with classic PKU.
Deleterious effect predicted in SIFT, Polyphen-2, MutationTaster. REVEL=0.967
absent from ExAC, gnomAD, 1000G, ESP. PAGE MAF=0.00066
Approved on: 2018-08-10
Published on: 2019-04-06
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